نتایج جستجو برای: friedreich ataxia

تعداد نتایج: 17893  

حیدری, محمد مهدی , خاتمی, مهری,

Introduction: The mitochondrial defects in Friedreich ataxia (FRDA) have been reported in many researches. Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by decreased expression of the Frataxin protein. Frataxin deficiency leads to excessive free radical production and dysfunction of respiratory chain complexes. Mitochondrial DNA (mtDNA) could be considered as a c...

Journal: :Movement Disorders Clinical Practice 2014

2010
Kuanyu Li Anamika Singh Daniel R. Crooks Xiaoman Dai Zhuangzhuang Cong Liang Pan Dung Ha Tracey A. Rouault

BACKGROUND Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN. Augmentation of frataxin expression levels in affected Friedreich ataxia patient tissues might substantially slow disease progression. METHODOLOGY/PRINCIPAL FINDINGS We uti...

Journal: :Journal of Medical Genetics 2000

Journal: :Journal of Neuropathology & Experimental Neurology 2013

Journal: :Journal of Neurochemistry 2013

Journal: :Archives of Neurology 2005

Journal: :Journal of Neurochemistry 2013

Journal: :Journal of Neurochemistry 2013

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید